Linked Data
ClinVar Variation Id:
21017
ClinVar RCV Id:
RCV000020073
dbSNP Id:
rs113994170
ExAC:
17:7127359 C / T
gnomAD v2:
17-7127359-C-T
gnomAD v3:
17-7224040-C-T
gnomAD v4:
17-7224040-C-T
ERepo:
CA341519/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224040C>T , CM000679.2:g.7224040C>T | GRCh38 |
| NC_000017.10:g.7127359C>T , CM000679.1:g.7127359C>T | GRCh37 |
| NC_000017.9:g.7068083C>T | NCBI36 |
| NG_007975.1:g.9207C>T | |
| NG_008391.2:g.1011G>A | |
| NG_033038.1:g.15505G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1405C>T MANE Select | ENSP00000349297.5:p.Arg469Trp | |
| ENST00000322910.9:c.*1360C>T | ENSP00000325395.5:n.*1360C>T | |
| ENST00000350303.9:c.1339C>T | ENSP00000344152.5:p.Arg447Trp | |
| ENST00000356839.9:c.1405C>T | ENSP00000349297.5:p.Arg469Trp | |
| ENST00000542255.6:c.263C>T | ||
| ENST00000543245.6:c.1474C>T | ENSP00000438689.2:p.Arg492Trp | |
| ENST00000578711.1:n.536C>T | ||
| ENST00000579425.5:n.521C>T | ||
| ENST00000579546.1:c.242C>T | ||
| ENST00000579894.5:n.116C>T | ||
| ENST00000583074.5:n.124C>T | ||
| ENST00000583850.5:n.180C>T | ||
| ENST00000583858.5:c.434C>T | ||
| ENST00000585203.6:n.596C>T | ||
| NM_000018.3:c.1405C>T | NP_000009.1:p.Arg469Trp | |
| NM_001033859.2:c.1339C>T | NP_001029031.1:p.Arg447Trp | |
| NM_001270447.1:c.1474C>T | NP_001257376.1:p.Arg492Trp | |
| NM_001270448.1:c.1177C>T | NP_001257377.1:p.Arg393Trp | |
| XM_006721516.2:c.1405C>T | XP_006721579.2:p.Arg469Trp | |
| XM_011523829.1:c.1405C>T | XP_011522131.1:p.Arg469Trp | |
| XM_011523830.1:c.1405C>T | XP_011522132.1:p.Arg469Trp | |
| XR_934021.1:n.1512C>T | ||
| XR_934022.1:n.1512C>T | ||
| XR_934023.1:n.1512C>T | ||
| XM_006721516.3:c.1405C>T | XP_006721579.2:p.Arg469Trp | |
| XM_011523829.2:c.1405C>T | XP_011522131.1:p.Arg469Trp | |
| XM_011523830.2:c.1405C>T | XP_011522132.1:p.Arg469Trp | |
| XM_024450741.1:c.1405C>T | XP_024306509.1:p.Arg469Trp | |
| XR_934021.2:n.1464C>T | ||
| XR_934022.2:n.1464C>T | ||
| XR_934023.2:n.1464C>T | ||
| NM_000018.4:c.1405C>T MANE Select | NP_000009.1:p.Arg469Trp | |
| NM_001033859.3:c.1339C>T | NP_001029031.1:p.Arg447Trp | |
| NM_001270447.2:c.1474C>T | NP_001257376.1:p.Arg492Trp | |
| NM_001270448.2:c.1177C>T | NP_001257377.1:p.Arg393Trp |